How the parents of a R.I. girl, one of only a few worldwide believed to have GNAO1 disorder, are searching for solutions
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According to her mother, Jackie Dembishack, Olivia uses a feeding tube to eat. She is fully dependent on her parents.
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'She is quote, unquote non-verbal, but we say she is vocal,' Jackie Dembishack said. 'She will, here and there, say a random word and … she loves to just babble.'
With no known cure or treatment for GNA01, the Dembishacks have launched
'There's a lot that we don't know at all,' Jordan Dembishack said.
The couple spoke to the Globe about what's known about the disorder, starting the foundation, and navigating life since the diagnosis.
Q: What exactly is GNAO1? What do we know about and what don't we know about it?
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Jordan Dembishack:
They think it's a movement disorder. So it looks much like cerebral palsy. There's like the five levels of cerebral palsy. So some kids in the GNAO1 community, they can walk, they might have a gait issue, but with Olivia's case, she's, like, pretty fully dependent.
And then also there's the seizure side, which they believe is actually epilepsy. So they theorize that if they could genetically test all the kids worldwide with [cerebral palsy], or even the adults with cerebral palsy, and epilepsy, and they were born that way — there was no extraordinary circumstance — there would be millions and millions of more people out there. It's just, they only found GNAO1 in 2013 and so as genetic testing might get cheaper, more people might be found. But unfortunately, kids are dying faster than we're finding them.
The disorder itself, I guess, technically, won't kill you, but it's the side effects of it. When she gets really sick, her movements get really bad. And what that means is that her muscle fibers start to break down, and that can get into the bloodstream, and then kidneys start to fail, and the liver and all the things.
What does the Olivia Joan Foundation do?
Jordan Dembishack:
We have three different pillars. We raise money for research. We give scholarships to [high school] seniors going into the science fields or medical fields, specifically pediatric medicine. We're hoping one day, maybe one of them will solve this whole thing. And then we also just raise awareness.
The last two years, we've raised and donated about $75,000 for research, which is really good because ... there's no real, state-sponsored money in this. It's all just scientists who have hunches and theories and families with kids who have the disorder that raise money to try to figure it out.
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What was the impetus for starting a foundation? Why go about it in this way?
Jordan Dembishack:
I teach high school social studies, and when I was just a long-term [substitute teacher] … one of my students threw us our first fundraiser for our family. She didn't have to do that. She just had a very kind soul.
It's like a civic project. All sophomores in the state of Massachusetts have to do it. Her mission was to raise funds for kids with disabilities, and then she surprised us like a couple weeks after school ended, her mom and dad called and said they wanted to do it for us. So we were humbled and also very appreciative of that, and so we decided to pay it forward.
We've seen a lot of health research funding getting taken away at the federal level. Is it disheartening to see that?
Jackie Dembishack:
Oh, absolutely. We actually just talked to Olivia's neurologist the other day, and he said that when stuff like this happens … it changes the whole generation that's to come because of all of it.
Given how little is known about this disorder, how has your family been able to navigate life since this diagnosis?
Jordan Dembishack:
A lot of tears. Lot of fear. But you just keep going. Outside of all the bad stuff that we're talking about, she's literally like one of the happiest little kids. She's a beautiful little girl.
Jackie Dembishack:
I mean, she doesn't quit, so we can't.
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The Olivia Joan Foundation will host its third annual comedy fundraiser 'Laughs for Liv' on Oct. 4 at The Guild Brewing Co. in Pawtucket, R.I. Tickets and more information are available at
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This interview has been edited for length and clarity.
The Boston Globe's weekly Ocean State Innovators column features a Q&A with Rhode Island innovators who are starting new businesses and nonprofits, conducting groundbreaking research, and reshaping the state's economy. Send tips and suggestions to reporter Alexa Gagosz at
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Christopher Gavin can be reached at
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Boston Globe
a day ago
- Boston Globe
How the parents of a R.I. girl, one of only a few worldwide believed to have GNAO1 disorder, are searching for solutions
'She's a warrior,' Jordan Dembishack said. 'I mean, like the kid's been in the hospital in the last two years, three separate times a week apiece.' Advertisement According to her mother, Jackie Dembishack, Olivia uses a feeding tube to eat. She is fully dependent on her parents. Get Rhode Island News Alerts Sign up to get breaking news and interesting stories from Rhode Island in your inbox each weekday. Enter Email Sign Up 'She is quote, unquote non-verbal, but we say she is vocal,' Jackie Dembishack said. 'She will, here and there, say a random word and … she loves to just babble.' With no known cure or treatment for GNA01, the Dembishacks have launched 'There's a lot that we don't know at all,' Jordan Dembishack said. The couple spoke to the Globe about what's known about the disorder, starting the foundation, and navigating life since the diagnosis. Q: What exactly is GNAO1? What do we know about and what don't we know about it? Advertisement Jordan Dembishack: They think it's a movement disorder. So it looks much like cerebral palsy. There's like the five levels of cerebral palsy. So some kids in the GNAO1 community, they can walk, they might have a gait issue, but with Olivia's case, she's, like, pretty fully dependent. And then also there's the seizure side, which they believe is actually epilepsy. So they theorize that if they could genetically test all the kids worldwide with [cerebral palsy], or even the adults with cerebral palsy, and epilepsy, and they were born that way — there was no extraordinary circumstance — there would be millions and millions of more people out there. It's just, they only found GNAO1 in 2013 and so as genetic testing might get cheaper, more people might be found. But unfortunately, kids are dying faster than we're finding them. The disorder itself, I guess, technically, won't kill you, but it's the side effects of it. When she gets really sick, her movements get really bad. And what that means is that her muscle fibers start to break down, and that can get into the bloodstream, and then kidneys start to fail, and the liver and all the things. What does the Olivia Joan Foundation do? Jordan Dembishack: We have three different pillars. We raise money for research. We give scholarships to [high school] seniors going into the science fields or medical fields, specifically pediatric medicine. We're hoping one day, maybe one of them will solve this whole thing. And then we also just raise awareness. The last two years, we've raised and donated about $75,000 for research, which is really good because ... there's no real, state-sponsored money in this. It's all just scientists who have hunches and theories and families with kids who have the disorder that raise money to try to figure it out. Advertisement What was the impetus for starting a foundation? Why go about it in this way? Jordan Dembishack: I teach high school social studies, and when I was just a long-term [substitute teacher] … one of my students threw us our first fundraiser for our family. She didn't have to do that. She just had a very kind soul. It's like a civic project. All sophomores in the state of Massachusetts have to do it. Her mission was to raise funds for kids with disabilities, and then she surprised us like a couple weeks after school ended, her mom and dad called and said they wanted to do it for us. So we were humbled and also very appreciative of that, and so we decided to pay it forward. We've seen a lot of health research funding getting taken away at the federal level. Is it disheartening to see that? Jackie Dembishack: Oh, absolutely. We actually just talked to Olivia's neurologist the other day, and he said that when stuff like this happens … it changes the whole generation that's to come because of all of it. Given how little is known about this disorder, how has your family been able to navigate life since this diagnosis? Jordan Dembishack: A lot of tears. Lot of fear. But you just keep going. Outside of all the bad stuff that we're talking about, she's literally like one of the happiest little kids. She's a beautiful little girl. Jackie Dembishack: I mean, she doesn't quit, so we can't. Advertisement The Olivia Joan Foundation will host its third annual comedy fundraiser 'Laughs for Liv' on Oct. 4 at The Guild Brewing Co. in Pawtucket, R.I. Tickets and more information are available at . This interview has been edited for length and clarity. The Boston Globe's weekly Ocean State Innovators column features a Q&A with Rhode Island innovators who are starting new businesses and nonprofits, conducting groundbreaking research, and reshaping the state's economy. Send tips and suggestions to reporter Alexa Gagosz at . Christopher Gavin can be reached at
Boston Globe
a day ago
- Boston Globe
A brain-injured football player returns home, his life changed forever. His family seeks answers from Sharon officials.
In his largely immobile left hand, he grips a stuffed toy teddy bear — a gift from an ambulance crew that transported him as he lay near death after he suffered a catastrophic brain injury during Sharon's Thanksgiving football game last year. Get Starting Point A guide through the most important stories of the morning, delivered Monday through Friday. Enter Email Sign Up His parents, meanwhile, attend to him around the clock while they and others wait for the Sharon school district to accept its share of responsibility for Rohan's devastating plight. Advertisement Three months have passed School administrators have yet to directly address questions about deficiencies, detailed in the Globe report in May, that may have contributed to Rohan's trauma. After spending more than $10,000 on an external investigation, according to a document obtained by the Globe through a public records request, they have not shared any of the investigative report with Rohan's family and have refused to release it to the public. Advertisement Some of the district's purported failures are powerful reminders to schools across the country about the life-or-death consequences of preventing, preparing for, and responding to medical emergencies in sports. 'No other parent should have to worry that what happened to Rohan will happen again,' said his mother, Deepika Talukdar. The district said in a statement, 'Sharon Public Schools continues to keep Rohan and his family in our thoughts and prayers through his recovery. The district maintains its support for the Shukla family while recognizing that a situation of this nature warrants maintaining their privacy.' Rohan's parents said they appreciate the district helping with Rohan's recovery, including preparing for him to possibly return to school one day. But they continue to seek information in the investigative report and said they have been willing to sacrifice privacy in the interest of student safety. School officials said in response to the Globe's records request that they are withholding the investigative report in part because they consider legal action 'reasonably foreseeable.' Rohan's parents declined to comment on possible litigation. The stakes may be sizable given the severe impact on Rohan and his family. Rohan had never needed medical care for anything but annual physicals before Thanksgiving. Now he needs help to perform his most basic bodily functions. He exists, even at home, as a long-term patient as much as a son and sibling. Advertisement The district's most glaring flaw, as the Globe reported, was perhaps not employing a full-time trainer during the 2024 football season, relying instead on part-timers only on game days, despite complaints from numerous coaches, including the head football coach, about player safety. Amid the lack of coverage, Rohan was permitted to return to play without submitting a medical clearance form or receiving a mandatory cognitive evaluation after he suffered a football concussion four weeks before the Thanksgiving game. He then was involved in a helmet-to-helmet collision in the last practice before Thanksgiving — a potentially dangerous blow that went undetected by the coaches. Rohan Shukla is wheeled by his father, Abhishek, down a newly installed ramp in the backyard of the family home. John Tlumacki/Globe Staff The problems outlined by the Globe have prompted townspeople as prominent as the chair of the Sharon School Committee to assert the district bears some responsibility for Rohan's crisis. Rohan was a sophomore honors student before his education abruptly ended on Thanksgiving. 'I do not believe that what happened to Rohan Shukla wasn't preventable,' the committee chair, Avi Shemtov, said during a candidate forum in May. 'I don't think the blame lies really anywhere other than solely with the school district — that includes the school committee and the administration — for not having a full-time athletic trainer." The unreleased investigative report could possibly include flaws in Rohan's case beyond those previously identified by the Globe. School officials, for example, responded in June to the records request by stating they did not possess a written medical emergency response plan for the high school — an apparent violation of state law. By statute, every district must 'ensure that every school under its jurisdiction has a written emergency response plan that addresses both medical and behavioral health crises to reduce the incidence of life-threatening medical emergencies and behavioral health crises and to promote efficient and appropriate responses to such emergencies.' Advertisement The district, however, asserted Friday in its statement for this story that it does possess written medical emergency response plans for every school in the system. Shemtov, the school committee chair, said the board will seek clarity on the matter. 'After being provided the contradictory statements issued by district administration to the Globe, the school committee is aware of the discrepancy and will be looking into it,' he said. Notable among the additional factors the Globe cited in Rohan's case was the district's decision to replace Sharon High's full-time athletic director before the 2024 season with an administrator who served as both a vice principal and athletic director — a formidable challenge for a school of Sharon's size, with an enrollment of 1,161 and 50 boys' and girls' sports teams. What's more, Sharon officials pitted their low-rated football team against a lineup of punishing opponents. Fourteen Sharon players missed multiple games because of injuries as the team went winless in 11 contests, losing by an average of nearly 40 points. Rohan and five teammates suffered documented concussions. 'It was noncompetitive and unsafe,' head coach Ben Shuffain told the Globe in April. Rohan's parents believed he entered the Thanksgiving game with extra head protection by wearing a shell cover over his helmet that the school had recommended they buy. But the cover wasn't the most protective available, and when the back of Rohan's head crashed to the ground after he made a dazzling defensive play, the shell provided no padding at the point of contact, Shuffain said. Advertisement School officials said in their statement, 'Student health and safety remain the forefront of the district's academic, extracurricular, and athletic initiatives.' Deepika Talukdar exchanges planted kisses with her son, Rohan Shukla, in his makeshift bedroom in the family's dining room. John Tlumacki/Globe Staff Rohan suffered an acute subdural hematoma, a massive brain bleed that with each passing minute reduced his chances of survival. He needed emergency surgery, but vital time was lost, first, because Sharon — unlike many other schools — did not post an ambulance at the Thanksgiving game. Rohan was clinging to life by the time a town ambulance delivered him to Good Samaritan Hospital in Brockton, a lower-level trauma center ill-suited to treat him. He desperately needed an airlift to Massachusetts General Hospital. But MedFlight helicopters were grounded by stormy weather, and Rohan's brain continued bleeding during the wait for a specially equipped ground ambulance. In all, nearly three hours passed between his head hitting the ground and his arrival in an MGH operating room — too long to prevent critical brain damage. Three hours of neurosurgery by Dr. William Butler and his team saved Rohan's life. He then spent four weeks in a coma at MGH before receiving five months of specialized treatment at Spaulding Rehabilitation Hospital, progressing enough that he regained much of his memory and personality. Doctors say it will take years of therapy before they can fully gauge the limits of Rohan's recovery. His mobility remains severely diminished, but his mind is sharp; his sense of humor, too. He returned home after his medical team and parents agreed that he might benefit from living with his family and receiving intensive outpatient therapy. He recently greeted a Globe reporter and photographer by composing a message on his whiteboard in French. Advertisement Why French? He remembers studying it in class. 'I am soon to be a French scholar,' he wrote to the amusement of his parents and guests. But the transition home has proved frightening at times. Rohan has twice experienced prolonged seizures, requiring ambulances to rush him to emergency rooms — first to Good Samaritan, the next time to MGH. When a nurse at Good Samaritan recognized him, she told his parents, 'I'm so happy to see him alive.' His mother winced, recalling their harrowing experience months earlier. Fear has haunted his parents since. One or the other constantly stays close to Rohan. One sleeps in his room, waking every three hours to turn him to prevent muscle soreness. He has a bell to ring for help, and they installed a camera to keep an eye on him. They also built an accessible bathroom and erected a wheelchair ramp to their door. Abhishek Shukla (left) and Deepika Talukdar place leg splints on their 16-year-old son, Rohan Shukla. John Tlumacki/Globe Staff His mother, who left her career as a software engineer to care for him, accompanies him four days a week as he travels for therapy in Waltham. His father, Abhishek Shukla, also a software engineer, commutes to Boston and helps when he can. Caring for Rohan demands so much attention that his parents regret the time they have lost with Naman, such as cheering for him as he travels as a pitcher for a club team, the East Coast Eagles. Yet Rohan has helped to nurture Naman. Even as Rohan yearns to reclaim his prior self — he hungers for a day when he can eat his favorite dish, his mother's chicken tacos — he finds ways to lift Naman. When Naman recently returned home dejected after a subpar pitching performance, he refused to speak to his parents about it. Rohan intervened. He snapped his fingers to grab his brother's attention and wrote on his whiteboard, 'Hey Naman don't beat yourself up.' Rohan Shukla returned home in late May, after his medical team and parents agreed that he might benefit from living with his family and receiving intensive outpatient therapy. John Tlumacki/Globe Staff Rohan's parents said after the Globe's visit, 'Rohan's spirit keeps us optimistic and going. Deep inside, we believe he's eventually going to come out of this resilient and strong and will continue to remind people that nothing is impossible.' Playing football again, though? His mother was shaken by his vision. 'I couldn't stop my tears,' she said. She never wanted him to play in the first place, but he wore her down. He wanted to be a wide receiver, to shine on the gridiron. He remembers the jersey number (81) he wore two years ago on Sharon's freshman/sophomore team, but he had no memory of his varsity number (7) last year until his parents informed him. In fact, he remembers all but nothing of the season that ultimately cost him the life he once knew. His mother asked him if he gets sad sometimes. 'Yes,' he wrote, 'because I cannot get up.' But he loves the sport. And soon, with help from his brother and friends, he will take another step in his recovery by playing a different kind of football, a game free of physical pain. A game called fantasy. Bob Hohler can be reached at
Boston Globe
2 days ago
- Boston Globe
‘Great news but a weird twist.' After the NIH moved to restore hundreds of grants, researchers remain in limbo.
Advertisement In New England, 63 of those grants, worth $126 million, are set to be restored, according to a Globe analysis based on the The grants were restored as the result of a lawsuit filed by the American Public Health Association and 16 state attorneys general arguing that the NIH improperly ended funding tied to topics like gender identity, health disparities, vaccine hesitancy, and DEI efforts. The judge in the case ruled in June that the terminations were 'illegal and void' and ordered the government to immediately make the funds available. The Trump administration has appealed the decision. Advertisement The grants are a fraction of the more than $3.1 billion in funding from the National Science Foundation and the Department of Health and Human Services that the Trump administration has canceled across New England. At a status hearing on the case Monday, attorneys representing the public health association said that more than 50 of its roughly 300 affected research grants across the country have not been reinstated, and that the NIH has not provided a timeline for when all grants will be restored. Researchers face other obstacles as well. At Harvard, virtually all federal funding remains frozen as part of the administration's broader assault on the university. Others face reduced staffing, due to layoffs, and shortened deadlines to complete their research. And funding at the federal level remains subject to sudden reversals, as shown Tuesday night when the White House In a statement Thursday, the NIH told the Globe it 'has been working to reinstate grants to comply with the court's order.' Scott Delaney, a Harvard scientist and co-creator of Grant Watch, said many researchers remain wary despite the win because of further appeals and reviews. 'Every indication is that NIH will continue to cut research on trans health and on DEI. They still remain hostile to broad bodies of research, and they continue to ask researchers to rewrite their grants to avoid certain topics,' said Delaney, who lost his own NIH funding and received a But many are pressing ahead despite the obstacles and hoping for the best. Advertisement Nancy Krieger, a professor of social epidemiology at the Harvard T.H. Chan School of Public Health, learned this month that her funding would be restored. She said that despite feeling vindicated by US District Court Judge William G. Young's ruling, she cannot access the funds due to the federal freeze on funds to Harvard. Since 2019, Krieger and her team have been working to measure the impact of six types of discrimination — including racism, sexism, and ageism — on health. The researchers enrolled 699 patients who completed two study questionnaires online and at three Boston community health centers — including Fenway Health, Mattapan Community Health Center, and Harvard Street Neighborhood Health Center in Dorchester — to test how discrimination contributes to psychological distress and sleep disorders. 'We can resume the work because we had completed all data collection and we were in the phase of data analysis and manuscript preparation,' Krieger said. 'Whether or not the funding ever truly gets reinstated for my grant — and I would like that it is — it's important, given the complexities, to make sure these things go from a court order to reality.' At Tufts, the school lost and then suddenly regained a pipeline for young talent, though several young scientists lost out in the process. The university hosts one of just 22 NIH-sponsored programs in the country that trains a diverse group of postdoctoral scholars in both research and teaching. The program, called the Institutional Research Career and Academic Development Award, or IRACDA, focuses on underrepresented groups. 'We were ramping up for another five years after earning highly competitive funding last fall,' said Mitch McVey, program director and professor of biology at Tufts. 'Then the new administration came in, and everything changed.' Advertisement When the NIH terminated funding, four incoming applicants had their offers rescinded just one day after receiving them. Marissa Maroni, 28, celebrated the news with her husband and prepared to move back to her home state. 'It felt like the right next step, personally and professionally,' said Maroni, who is finishing her PhD at the University of Pennsylvania. 'But just a day later, I got an email saying the program was canceled. It was incredibly disheartening.' The loss also affects Bunker Hill Community College, University of Massachusetts Boston, and Suffolk University, where IRACDA scholars like Maroni were slated to teach next year. McVey said Tufts might extend the offers again to the four applicants but, 'We're trying to balance the risk involved here, which would be that if the government wins the appeal, the funding will likely be terminated again. We don't want to put the scholars in a position where their job security is always in jeopardy, so we're trying to figure out how to best navigate this situation. It's not easy.' At Yale, nine NIH grants that were terminated are in the process of reinstatement. Four of those belong to John Pachankis, a Yale School of Public Health professor who has spent the past 20 years investigating why people in the LGBTQ+ community are at higher risk for depression, anxiety, and suicide. The sudden March terminations not only disrupted years of research but also halted the rollout of promising mental health interventions. One of Pachankis's halted trials aimed to train front-line mental health providers working at 90 LGBTQ+ community centers across 35 states in cognitive-behavioral therapy to treat depression, anxiety, and substance use. Advertisement 'Right before the funding termination, we learned that our trained mental health providers had started delivering our cognitive-behavioral therapy to over 4,000 LGBT people in just four months,' he said. The funding cut prevented them from studying the longer-term impact of the therapy and ways to sustain it in local communities. Restarting the work has been slow and resource-intensive, he said. It requires updating ethics approvals, reconvening data safety review boards, updating clinical trials registries, drafting now-overdue progress reports, and restarting trials enrollment while no longer having sufficient staff to do this work. 'The research infrastructure took years to build, was collapsed in a day, and will take months if not longer to rebuild,' Pachankis said. 'My confidence in future federal funding for this research remains shaken, but my team's commitment to asking and answering important scientific questions isn't going away.' Meanwhile, at Brown, Moitra is figuring out how to move forward with his research. Between 2022 and early 2024, he and his team recruited 240 LGBTQ+ participants, offering two counseling sessions to study the mental health impacts from the pandemic. After funding was pulled, Moitra said, they lost 40 participants' worth of data that had timed out after those participants received just one counseling session. Now that the grant has been reinstated, Moitra's team is left racing against the clock as the deadline for the funding to be used remains Aug. 31. The researchers are applying for a no-cost extension to allow them to complete the work without requesting additional funds. 'After five-plus months of uncertainty, we were moving on,' Moitra said. 'It's hard to scramble it all back together.' Advertisement Sarah Rahal can be reached at
